B4GN4_HUMAN
ID B4GN4_HUMAN Reviewed; 1039 AA.
AC Q76KP1; Q96LV2;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1;
DE Short=NGalNAc-T1;
DE EC=2.4.1.244;
DE AltName: Full=Beta-1,4-N-acetylgalactosaminyltransferase IV;
DE Short=Beta4GalNAc-T4;
DE Short=Beta4GalNAcT4;
GN Name=B4GALNT4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], CATALYTIC ACTIVITY, AND TISSUE SPECIFICITY.
RX PubMed=15044014; DOI=10.1016/s0014-5793(04)00219-4;
RA Gotoh M., Sato T., Kiyohara K., Kameyama A., Kikuchi N., Kwon Y.-D.,
RA Ishizuka Y., Iwai T., Nakanishi H., Narimatsu H.;
RT "Molecular cloning and characterization of beta1,4-N-
RT acetylgalactosaminyltransferases IV synthesizing N,N'-
RT diacetyllactosediamine.";
RL FEBS Lett. 562:134-140(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 707-1039.
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- FUNCTION: Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to
CC N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-
CC diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked
CC glycans and probably O-linked glycans.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=an N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-
CC alpha-D-galactosamine = an N-acetyl-beta-D-galactosaminyl-(1->4)-N-
CC acetyl-beta-D-glucosaminyl derivative + H(+) + UDP;
CC Xref=Rhea:RHEA:20493, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223,
CC ChEBI:CHEBI:61631, ChEBI:CHEBI:67138, ChEBI:CHEBI:138027;
CC EC=2.4.1.244; Evidence={ECO:0000269|PubMed:15044014};
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane
CC {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Highly expressed in ovary, adult and fetal brain.
CC Also expressed in fetal kidney and lung. {ECO:0000269|PubMed:15044014}.
CC -!- SIMILARITY: Belongs to the chondroitin N-
CC acetylgalactosaminyltransferase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71566.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB089939; BAD06471.1; -; mRNA.
DR EMBL; AK057774; BAB71566.1; ALT_INIT; mRNA.
DR CCDS; CCDS7694.1; -.
DR RefSeq; NP_848632.2; NM_178537.4.
DR AlphaFoldDB; Q76KP1; -.
DR SMR; Q76KP1; -.
DR BioGRID; 130784; 7.
DR IntAct; Q76KP1; 7.
DR STRING; 9606.ENSP00000328277; -.
DR CAZy; GT7; Glycosyltransferase Family 7.
DR GlyGen; Q76KP1; 1 site.
DR iPTMnet; Q76KP1; -.
DR PhosphoSitePlus; Q76KP1; -.
DR BioMuta; B4GALNT4; -.
DR DMDM; 74712926; -.
DR EPD; Q76KP1; -.
DR jPOST; Q76KP1; -.
DR MassIVE; Q76KP1; -.
DR PaxDb; Q76KP1; -.
DR PeptideAtlas; Q76KP1; -.
DR PRIDE; Q76KP1; -.
DR ProteomicsDB; 68677; -.
DR Antibodypedia; 64249; 5 antibodies from 5 providers.
DR DNASU; 338707; -.
DR Ensembl; ENST00000329962.11; ENSP00000328277.6; ENSG00000182272.12.
DR GeneID; 338707; -.
DR KEGG; hsa:338707; -.
DR MANE-Select; ENST00000329962.11; ENSP00000328277.6; NM_178537.5; NP_848632.2.
DR UCSC; uc001lpb.4; human.
DR CTD; 338707; -.
DR DisGeNET; 338707; -.
DR GeneCards; B4GALNT4; -.
DR HGNC; HGNC:26315; B4GALNT4.
DR HPA; ENSG00000182272; Tissue enhanced (brain, ovary).
DR MIM; 618560; gene.
DR neXtProt; NX_Q76KP1; -.
DR OpenTargets; ENSG00000182272; -.
DR PharmGKB; PA142672565; -.
DR VEuPathDB; HostDB:ENSG00000182272; -.
DR eggNOG; KOG3588; Eukaryota.
DR GeneTree; ENSGT01050000244857; -.
DR HOGENOM; CLU_011195_0_0_1; -.
DR InParanoid; Q76KP1; -.
DR OMA; LEPCTYA; -.
DR OrthoDB; 339331at2759; -.
DR PhylomeDB; Q76KP1; -.
DR TreeFam; TF318303; -.
DR BRENDA; 2.4.1.244; 2681.
DR BRENDA; 2.4.1.92; 2681.
DR PathwayCommons; Q76KP1; -.
DR SignaLink; Q76KP1; -.
DR BioGRID-ORCS; 338707; 11 hits in 1073 CRISPR screens.
DR ChiTaRS; B4GALNT4; human.
DR GenomeRNAi; 338707; -.
DR Pharos; Q76KP1; Tdark.
DR PRO; PR:Q76KP1; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q76KP1; protein.
DR Bgee; ENSG00000182272; Expressed in right hemisphere of cerebellum and 93 other tissues.
DR ExpressionAtlas; Q76KP1; baseline and differential.
DR Genevisible; Q76KP1; HS.
DR GO; GO:0032580; C:Golgi cisterna membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0008376; F:acetylgalactosaminyltransferase activity; IDA:HGNC-UCL.
DR GO; GO:0033842; F:N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity; IEA:UniProtKB-EC.
DR Gene3D; 3.90.550.10; -; 1.
DR InterPro; IPR008428; Chond_GalNAc.
DR InterPro; IPR029044; Nucleotide-diphossugar_trans.
DR InterPro; IPR037524; PA14/GLEYA.
DR InterPro; IPR011658; PA14_dom.
DR Pfam; PF05679; CHGN; 1.
DR SMART; SM00758; PA14; 1.
DR SUPFAM; SSF53448; SSF53448; 1.
DR PROSITE; PS51820; PA14; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Golgi apparatus; Membrane; Reference proteome; Signal-anchor;
KW Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1..1039
FT /note="N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-
FT acetylgalactosaminyltransferase 1"
FT /id="PRO_0000252370"
FT TOPO_DOM 1..15
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 16..36
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 37..1039
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT DOMAIN 108..278
FT /note="PA14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01164"
FT REGION 51..94
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 298..320
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 448..493
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 531..550
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 562..670
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 74..89
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 455..484
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 562..576
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 610..637
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 641..664
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 105
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 67
FT /note="A -> V (in dbSNP:rs34063493)"
FT /id="VAR_061096"
FT VARIANT 88
FT /note="G -> V (in dbSNP:rs11822725)"
FT /id="VAR_061097"
FT CONFLICT 942
FT /note="V -> M (in Ref. 2; BAB71566)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1039 AA; 116513 MW; 1D8D9E07AFC8DF70 CRC64;
MPRLPVKKIR KQMKLLLLLL LLSCAAWLTY VHLGLVRQGR ALRQRLGYGR DGEKLTSETD
GRGVHAAPST QRAEDSSESR EEEQAPEGRD LDMLFPGGAG RLPLNFTHQT PPWREEYKGQ
VNLHVFEDWC GGAVGHLRRN LHFPLFPHTR TTVKKLAVSP KWKNYGLRIF GFIHPARDGD
VQFSVASDDN SEFWLSLDES PAAAQLVAFV GKTGSEWTAP GEFTKFSSQV SKPRRLMASR
RYYFELLHKQ DDRGSDHVEV GWRAFLPGLK FEVISSAHIS LYTDESALKM DHVAHVPQSP
ASHVGGRPPQ EETSADMLRP DPRDTFFLTP RMESSSLENV LEPCAYAPTY VVKDFPIARY
QGLQFVYLSF VYPNDYTRLT HMETDNKCFY RESPLYLERF GFYKYMKMDK EEGDEDEEDE
VQRRAFLFLN PDDFLDDEDE GELLDSLEPT EAAPPRSGPQ SPAPAAPAQP GATLAPPTPP
RPRDGGTPRH SRALSWAARA ARPLPLFLGR APPPRPAVEQ PPPKVYVTRV RPGQRASPRA
PAPRAPWPPF PGVFLHPRPL PRVQLRAPPR PPRPHGRRTG GPQATQPRPP ARAQATQGGR
EGQARTLGPA APTVDSNLSS EARPVTSFLS LSQVSGPQLP GEGEEEEEGE DDGAPGDEAA
SEDSEEAAGP ALGRWREDAI DWQRTFSVGA VDFELLRSDW NDLRCNVSGN LQLPEAEAVD
VTAQYMERLN ARHGGRFALL RIVNVEKRRD SARGSRFLLE LELQERGGGR LRLSEYVFLR
LPGARVGDAD GESPEPAPAA SVRPDGRPEL CRPLRLAWRQ DVMVHFIVPV KNQARWVAQF
LADMAALHAR TGDSRFSVVL VDFESEDMDV ERALRAARLP RYQYLRRTGN FERSAGLQAG
VDAVEDASSI VFLCDLHIHF PPNILDGIRK HCVEGRLAFA PVVMRLSCGS SPRDPHGYWE
VNGFGLFGIY KSDFDRVGGM NTEEFRDQWG GEDWELLDRV LQAGLEVERL RLRNFYHHYH
SKRGMWSVRS RKGSRTGAS
